Arrhythmias and sudden death panel

Arrhythmias and Sudden Death without Structural Cardiopathy General Panel
[90 genes]

It includes priority genes with a clear association with these diseases, secondary genes where the evidence is lower, and candidate genes gathered from a systematic literature review

Study requisition form

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Informed consent

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CACNA1C	CALM1	CALM2	CALM3	CASQ2	DES	DSC2	DSG2	DSP	EMD
FLNC	JUP	KCNE1	KCNE2	KCNH2	KCNJ2	KCNQ1	LMNA	MYH7	NKX2-5
PKP2	PLN	PRKAG2	RYR2	SCN5A	TNNC1	TNNI3	TNNT2	ACTC1	AKAP9
ANK2	CACNA1D	CACNA2D1	CACNB2	CAV3	FHL2	GAA	GJA5	GLA	GNB2
GPD1L	HCN4	IRX3	KCNA5	KCND3	KCNE3	KCNE5	KCNJ5	KCNJ8	LAMP2
MYH6	PITX2	SCN1B	SCN2B	SCN4B	SLC22A5	SNTA1	TBX5	TECRL	TMEM43
TNNI3K	TRDN	TRPM4	TTR	ABCC9*	ANK3*	CAVIN1*	CAVIN4*	CDH2*	FGF12*
GATA5*	GJA1*	GREM2*	KCND2*	KCNK17*	KCNK3*	LDB3*	MYBPHL*	NKX2-6*	NOS1AP*
NPPA*	PPA2*	RANGRF*	SCN10A*	SCN3B*	SLMAP*	SYNE2*	TMEM175*	TPM1*	ZFHX3*

Arrhythmias and Sudden Death without Structural Cardiopathy General Panel [90 genes]

It includes priority genes with a clear association with these diseases, secondary genes where the evidence is lower, and candidate genes gathered from a systematic literature review.

Study requisition form



Informed consent



CACNA1C	CALM1	CALM2	CALM3
CASQ2	DES	DSC2	DSG2
DSP	EMD	FLNC	JUP
KCNE1	KCNE2	KCNH2	KCNJ2
KCNQ1	LMNA	MYH7	NKX2-5
PKP2	PLN	PRKAG2	RYR2
SCN5A	TNNC1	TNNI3	TNNT2
ACTC1	AKAP9	ANK2	CACNA1D
CACNA2D1	CACNB2	CAV3	FHL2
GAA	GJA5	GLA	GNB2
GPD1L	HCN4	IRX3	KCNA5
KCND3	KCNE3	KCNE5	KCNJ5
KCNJ8	LAMP2	MYH6	PITX2
SCN1B	SCN2B	SCN4B	SLC22A5
SNTA1	TBX5	TECRL	TMEM43
TNNI3K	TRDN	TRPM4	TTR
ABCC9*	ANK3*	CAVIN1*	CAVIN4*
CDH2*	FGF12*	GATA5*	GJA1*
GREM2*	KCND2*	KCNK17*	KCNK3*
LDB3*	MYBPHL*	NKX2-6*	NOS1AP*
NPPA*	PPA2*	RANGRF*	SCN10A*
SCN3B*	SLMAP*	SYNE2*	TMEM175*
TPM1*	ZFHX3*

Nota genes

NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

Diseases involved
Yield of genetic testing

Diseases involved

It includes diseases that can cause ventricular arrhythmias and sudden death as their first clinical manifestation. Therefore, channelopathies and some genes associated with cardiomyopathies but capable of producing ventricular arrhythmias without any apparent cardiac involvement are included.

Yield of genetic testing

This panel is mainly oriented at diagnosing of phenotypes that present ventricular arrhythmias as a primary manifestation of the disease without apparent structural heart disease and not clearly defined phenotype.
It is intended for those individuals whose clinical or anatomopathological study does not show structural alterations, and would be the testing of choice in cases of sudden death with negative autopsy.
It should be especially considered in patients with personal or family history of sudden death, subjects with a history of syncope of undetermined origin, or individuals with idiopathic ventricular fibrillation without structural heart disease.